Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome.
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DOI: 10.3324/haematol.2020.249805
Abstract: In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describe findings… read more here.
Keywords: thrombocytopenia thalassemia; thalassemia; platelet syndrome; platelet ... See more keywords